Newborn Screening for Metabolic Diseases

A large number of rare diseases result from the loss of critical enzymes, allowing toxic metabolic by-products to build up in the body. In essence, an afflicted person is poisoned, and the results can be devastating: severe neurological impairment, sometimes death. Yet in many cases, simple changes in the diet can avert all harm. The best time to obtain a diagnosis is before the onset of any symptoms—ideally within a week of birth. All U.S. states and many nations require that all newborns be screened for a spectrum of inherited disease. Until recently, states screened for only a handful of diseases, each requiring a unique test, but refinements in tandem mass spectrometry techniques are now allowing states to screen for more than two dozen diseases with a single test. A growing number of states are using tandem mass spectrometry for efficient newborn screening.